{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T11:47:02Z","timestamp":1793360822931,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T00:00:00Z","timestamp":1674432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007338","name":"AIIMS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007338","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by biallelic loss of function variants in the <jats:italic>CEP57<\/jats:italic> gene. MVA2 is characterized by a variable phenotype ranging from poor growth to facial dysmorphism, short stature and congenital heart defects. Only 11 families and 5 pathogenic variants of MVA2 have been described so far. Intragenic duplication of 11 nucleotides (c.915_925dup11) in homozygous or compound heterozygous state is the commonest genetic aberration (10\/13). We describe the first Indian family with two siblings with a novel homozygous splice site variant (c.382+2T&gt;C) in <jats:italic>CEP57<\/jats:italic>. Molecular characterization demonstrated skipping of exon 3 due to the variant with protein modeling predicting subsequent complete loss of function. This is the first report of a splice site variation in <jats:italic>CEP57<\/jats:italic> leading to MVA2<jats:italic>.<\/jats:italic><\/jats:p>","DOI":"10.1111\/cge.14297","type":"journal-article","created":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T04:04:36Z","timestamp":1673582676000},"page":"478-483","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Mosaic variegated aneuploidy syndrome 2 with biallelic novel <scp><i>CEP57<\/i><\/scp> splice site variation in Indian siblings: Expanding the clinical and molecular spectrum"],"prefix":"10.1111","volume":"103","author":[{"given":"Nitika","family":"Langeh","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumedha","family":"Saluja","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul Samath","family":"Ethayathulla","sequence":"additional","affiliation":[{"name":"Department of Biophysics AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manisha","family":"Jana","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayanth Kumar","family":"Palanichamy","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.822"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI120316"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1655"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36166"},{"key":"e_1_2_10_6_1","doi-asserted-by":"crossref","DOI":"10.3390\/mps4030062","article-title":"What's wrong in a jump? Prediction and validation of splice site variants","volume":"4","author":"Riolo G","year":"2021","journal-title":"Methods Protoc"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/1066527041410418"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.013"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1064"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104338"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1951"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104044"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14297","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14297","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T15:03:59Z","timestamp":1692371039000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,23]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1111\/cge.14297"],"URL":"https:\/\/doi.org\/10.1111\/cge.14297","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,23]]},"assertion":[{"value":"2022-09-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}